Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.
| RefSeq Version | NM_003183.4, 73747888 |
| Length | 3572 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA. |
| Product | disintegrin and metalloproteinase domain-containing protein 17 preproprotein |
| Comment | Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. [provided by RefSeq]. |
| RefSeq | NP_003174.3 |
| CDS | 184..2658 | Exon (1) | 1..280 | Exon (2) | 1..280 | Exon (3) | 281..413 | Exon (4) | 414..544 | Exon (5) | 545..633 | Exon (6) | 634..802 | Exon (7) | 803..936 | Exon (8) | 937..1026 | Exon (9) | 1027..1140 | Exon (10) | 1141..1285 | Exon (11) | 1286..1374 | Exon (12) | 1375..1527 | Exon (13) | 1528..1727 | Exon (14) | 1728..1831 | Exon (15) | 1832..1966 | Exon (16) | 1967..2097 | Exon (17) | 2098..2176 | Exon (18) | 2177..2265 | Exon (19) | 2266..2316 | Exon (20) | 2317..3572 |
| Translation | MRQSLLFLTSVVPFVLAPRPPDDPGFGPHQRLEKLDSLLSDYDILSLSNIQQHSVRKRDL
QTSTHVETLLTFSALKRHFKLYLTSSTERFSQNFKVVVVDGKNESEYTVKWQDFFTGHVV
GEPDSRVLAHIRDDDVIIRINTDGAEYNIEPLWRFVNDTKDKRMLVYKSEDIKNVSRLQS
PKVCGYLKVDNEELLPKGLVDREPPEELVHRVKRRADPDPMKNTCKLLVVADHRFYRYMG
RGEESTTTNYLIELIDRVDDIYRNTSWDNAGFKGYGIQIEQIRILKSPQEVKPGEKHYNM
AKSYPNEEKDAWDVKMLLEQFSFDIAEEASKVCLAHLFTYQDFDMGTLGLAYVGSPRANS
HGGVCPKAYYSPVGKKNIYLNSGLTSTKNYGKTILTKEADLVTTHELGHNFGAEHDPDGL
AECAPNEDQGGKYVMYPIAVSGDHENNKMFSNCSKQSIYKTIESKAQECFQERSNKVCGN
SRVDEGEECDPGIMYLNNDTCCNSDCTLKEGVQCSDRNSPCCKNCQFETAQKKCQEAINA
TCKGVSYCTGNSSECPPPGNAEDDTVCLDLGKCKDGKCIPFCEREQQLESCACNETDNSC
KVCCRDLSGRCVPYVDAEQKNLFLRKGKPCTVGFCDMNGKCEKRVQDVIERFWDFIDQLS
INTFGKFLADNIVGSVLVFSLIFWIPFSILVHCVDKKLDKQYESLSLFHPSNVEMLSSMD
SASVRIIKPFPAPQTPGRLQPAPVIPSAPAAPKLDHQRMDTIQEDPSTDSHMDEDGFEKD
PFPNSSTAAKSFEDLTDHPVTRSEKAASFKLQRQNRVDSKETEC
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| Position | Chain | Variation | Link |
| complement(12) | - | g, a | dbSNP:12692386 |
| 30 | + | a, c | dbSNP:55790676 |
| complement(331) | - | t, c | dbSNP:61754178 |
| complement(361) | - | t, g | dbSNP:112594248 |
| complement(402) | - | t, g | dbSNP:113429723 |
| complement(415) | - | g, c | dbSNP:77759270 |
| complement(544) | - | , largedeletion | dbSNP:71790953 |
| 667 | + | a, g | dbSNP:34431503 |
| 787 | + | a, g, t | dbSNP:2230818 |
| 1654 | + | c, t | dbSNP:55937573 |
| complement(1878) | - | g, a | dbSNP:56237316 |
| 2007 | + | c, t | dbSNP:1048610 |
| complement(2133) | - | t, c | dbSNP:112463036 |
| complement(2200) | - | t, c | dbSNP:61754177 |
| 2256 | + | c, t | dbSNP:34355677 |
| 2423 | + | c, t | dbSNP:55796712 |
| complement(2426) | - | g, a | dbSNP:79932015 |
| complement(2531) | - | t, g | dbSNP:78855175 |
| complement(2717) | - | , t | dbSNP:35398527 |
| 2719 | + | , a | dbSNP:3833563 |
| complement(2733) | - | t, c | dbSNP:6705408 |
| 2948 | + | a, g | dbSNP:1130094 |
| complement(3010..3011) | - | , a | dbSNP:71719826 |
| complement(3018..3019) | - | , a | dbSNP:35007898 |
| complement(3019..3020) | - | , a | dbSNP:5829218 |
| complement(3020..3021) | - | , a | dbSNP:111759422 |
| complement(3038) | - | t, c | dbSNP:73149881 |
| complement(3083..3086) | - | , acta | dbSNP:77130641 |
| complement(3090) | - | c, a | dbSNP:117503045 |
| 3233 | + | a, g | dbSNP:10063 |
| complement(3412..3413) | - | , gtaa | dbSNP:71636812 |
| complement(3552..3553) | - | , tt | dbSNP:34525911 |
| Gene Symbol | ADAM17 |
| Gene Synonym | ADAM18; CD156B; CSVP; MGC71942; TACE |
| Chromosome | 2 |
| Locus Map | 2p25 |
| All Transcripts | NM_003183 |
| Title | ADAM metallopeptidase domain 17 (ADAM17) is naturally processed through major histocompatibility complex (MHC) class I molecules and is a potential immunotherapeutic target in breast, ovarian and prostate cancers . |
| Author | Sinnathamby,G., Zerfass,J., Hafner,J., Block,P., Nickens,Z., Hobeika,A., Secord,A.A., Lyerly,H.K., Morse,M.A. and Philip,R. |
| Journal | Clin. Exp. Immunol. 163 (3), 324-332 (2011) |
| Title | A transforming Src mutant increases the bioavailability of EGFR ligands via stimulation of the cell-surface metalloproteinase ADAM17 . |
| Author | Maretzky,T., Zhou,W., Huang,X.Y. and Blobel,C.P. |
| Journal | Oncogene 30 (5), 611-618 (2011) |
| Title | P2Y6 receptors and ADAM17 mediate low-dose gamma-ray-induced focus formation (activation) of EGF receptor . |
| Author | Tamaishi,N., Tsukimoto,M., Kitami,A. and Kojima,S. |
| Journal | Radiat. Res. 175 (2), 193-200 (2011) |
| Title | Overexpression of TACE and TIMP3 mRNA in head and neck cancer: association with tumour development and progression . |
| Author | Kornfeld,J.W., Meder,S., Wohlberg,M., Friedrich,R.E., Rau,T., Riethdorf,L., Loning,T., Pantel,K. and Riethdorf,S. |
| Journal | Br. J. Cancer 104 (1), 138-145 (2011) |
| Title | Acetylenic inhibitors of ADAM10 and ADAM17: in silico analysis of potency and selectivity . |
| Author | Healy,E.F., Romano,P., Mejia,M. and Lindfors,G. III. |
| Journal | J. Mol. Graph. Model. 29 (3), 436-442 (2010) |
| Title | Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain . |
| Author | Schroeter,E.H., Kisslinger,J.A. and Kopan,R. |
| Journal | Nature 393 (6683), 382-386 (1998) |
| Title | TNF-alpha convertase enzyme from human arthritis-affected cartilage: isolation of cDNA by differential display, expression of the active enzyme, and regulation of TNF-alpha . |
| Author | Patel,I.R., Attur,M.G., Patel,R.N., Stuchin,S.A., Abagyan,R.A., Abramson,S.B. and Amin,A.R. |
| Journal | J. Immunol. 160 (9), 4570-4579 (1998) |
| Title | Crystal structure of the catalytic domain of human tumor necrosis factor-alpha-converting enzyme . |
| Author | Maskos,K., Fernandez-Catalan,C., Huber,R., Bourenkov,G.P., Bartunik,H., Ellestad,G.A., Reddy,P., Wolfson,M.F., Rauch,C.T., Castner,B.J., Davis,R., Clarke,H.R., Petersen,M., Fitzner,J.N., Cerretti,D.P., March,C.J., Paxton,R.J., Black,R.A. and Bode,W. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 95 (7), 3408-3412 (1998) |
| Title | Cloning of a disintegrin metalloproteinase that processes precursor tumour-necrosis factor-alpha . |
| Author | Moss,M.L., Jin,S.L., Milla,M.E., Bickett,D.M., Burkhart,W., Carter,H.L., Chen,W.J., Clay,W.C., Didsbury,J.R., Hassler,D., Hoffman,C.R., Kost,T.A., Lambert,M.H., Leesnitzer,M.A., McCauley,P., McGeehan,G., Mitchell,J., Moyer,M., Pahel,G., Rocque,W., Overton,L.K., Schoenen,F., Seaton,T., Su,J.L., Becherer,J.D. et al. |
| Journal | Nature 385 (6618), 733-736 (1997) |
| Title | A metalloproteinase disintegrin that releases tumour-necrosis factor-alpha from cells . |
| Author | Black,R.A., Rauch,C.T., Kozlosky,C.J., Peschon,J.J., Slack,J.L., Wolfson,M.F., Castner,B.J., Stocking,K.L., Reddy,P., Srinivasan,S., Nelson,N., Boiani,N., Schooley,K.A., Gerhart,M., Davis,R., Fitzner,J.N., Johnson,R.S., Paxton,R.J., March,C.J. and Cerretti,D.P. |
| Journal | Nature 385 (6618), 729-733 (1997) |
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